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multiple epiphyseal dysplasia, with severe proximal femoral dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

MONDO:0012253

Also known as:epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia

Overview

Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.

GeneticsAutosomal dominant

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hand abnormalities (abnormality of the hand), Proximal femoral metaphyseal irregularity, Arthralgia of the hip, and Broad femoral neck and 10 more.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Proximal femoral metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck

Diagnosis

Biomarker and diagnostic research for multiple epiphyseal dysplasia, with severe proximal femoral dysplasia has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for multiple epiphyseal dysplasia, with severe proximal femoral dysplasia.

9 publications have been identified in PubMed for multiple epiphyseal dysplasia, with severe proximal femoral dysplasia. Research spans Review / Meta-Analysis (33%), Diagnostic / Biomarker (22%), and Case Report / Case Series (22%).

Recent Publications

Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Yeter B (2025). [PMID: 39849673](https://pubmed.ncbi.nlm.nih.gov/39849673/). *J Clin Res Pediatr Endocrinol*. [Diagnostic / Biomarker]
Johnson JL (2025). [PMID: 40523242](https://pubmed.ncbi.nlm.nih.gov/40523242/). *J Am Acad Orthop Surg*. [Review / Meta-Analysis]
Wu J (2025). [PMID: 41208219](https://pubmed.ncbi.nlm.nih.gov/41208219/). *Am J Case Rep*. [Case Report / Case Series]
Vallin AL (2025). [PMID: 39643117](https://pubmed.ncbi.nlm.nih.gov/39643117/). *J Gynecol Obstet Hum Reprod*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609324

Orphanet

European rare disease database

Orphanet:166029

GARD

Genetic and Rare Diseases Info Center

GARD:17015

Questions for Your Care Team

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multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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